Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation
In search of the gene for progressive epilepsy with mental retardation (EPMR) we identified DLGAP2, the human homolog of the gene encoding the rat PSD-95/SAP90-associated protein-2 (Dlgap2). We extended the transcript in both the 5' and 3' directions and characterised the genomic structure...
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| Veröffentlicht in: | European journal of human genetics : EJHG 2000-05, Vol.8 (5), p.381-384 |
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| container_title | European journal of human genetics : EJHG |
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| creator | Ranta, S Zhang, Y Ross, B Takkunen, E Hirvasniemi, A de la Chapelle, A Gilliam, T C Lehesjoki, A E |
| description | In search of the gene for progressive epilepsy with mental retardation (EPMR) we identified DLGAP2, the human homolog of the gene encoding the rat PSD-95/SAP90-associated protein-2 (Dlgap2). We extended the transcript in both the 5' and 3' directions and characterised the genomic structure of the approximately 10 kb gene. Sequence comparisons of human DLGAP2 cDNA sequences obtained from human testis and brain cDNA libraries with homologous rat genes suggest alternative splicing in the 5' end of the gene. The 5' coding sequence of the testis cDNA is complete, whereas based on homology with the rat gene 103 bp of coding sequence may still be missing in the 5' end of the DLGAP2 brain transcript. DLGAP2 was excluded as the gene responsible for EPMR. |
| doi_str_mv | 10.1038/sj.ejhg.5200440 |
| format | Article |
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We extended the transcript in both the 5' and 3' directions and characterised the genomic structure of the approximately 10 kb gene. Sequence comparisons of human DLGAP2 cDNA sequences obtained from human testis and brain cDNA libraries with homologous rat genes suggest alternative splicing in the 5' end of the gene. The 5' coding sequence of the testis cDNA is complete, whereas based on homology with the rat gene 103 bp of coding sequence may still be missing in the 5' end of the DLGAP2 brain transcript. 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| subjects | Alternative splicing Base Sequence Chromosome Mapping Chromosomes, Human, Pair 8 Cloning Cloning, Molecular Coding DNA, Complementary - analysis Epilepsy Epilepsy - genetics Genes Genetics Genome, Human Genomes Homology Humans Intellectual disabilities Intellectual Disability - genetics Molecular Sequence Data Mutation Nerve Tissue Proteins - genetics Pedigree Postsynaptic density proteins Progressive epilepsy with mental retardation Proteins Transcription |
| title | Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation |
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